@misc{indiciaedfff2c518902, title = {SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing}, author = {Danis, Daniel and Jacobsen, Julius O. B. and Balachandran, Parithi and Zhu, Qihui and Yilmaz, Feyza and Reese, Justin and Haimel, Matthias and Lyon, Gholson J. and Helbig, Ingo and Mungall, Christopher J. and Beck, Christine R. and Lee, Charles and Smedley, Damian and Robinson, Peter N.}, year = {2022}, doi = {10.1186/s13073-022-01046-6}, url = {https://www.osti.gov/biblio/1896475}, note = {Source identifier: 1896475} }